Resistance to thyroid hormone beta (RTHb)

What is Resistance to thyroid hormone beta (RTHb)

This congenital genetic disease is a rare syndrome of impaired tissue responsiveness to thyroid hormones.

Inheritance

This condition has an autosomal dominant or recessive pattern of inheritance

Synonyms

  • RTHb
  • Resistance to thyroid hormone due to a mutation in TRb

Age of onset

All ages

Symptoms of Resistance to thyroid hormone beta

  • Poor linear growth
  • decreased body weight
  • tachycardia
  • positive family history
  • neonatal features suggestive of RTHb

Diagnosis

  1. Elevated free thyroxine
  2. Free triiodothyronine
  3. Non-suppressed thyrotropin (TSH) concentration
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